Connexin Test (GJB2 Sequencing and DFNB1 (GJB6) Deletions)
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000509100.6
- Last updated: 2022-08-23
- Annual Review past due read more
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Hereditary hearing loss and deafness
Offered by Laboratory for Molecular Medicine
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Connexin Test (GJB2 Sequencing and DFNB1 (GJB6) Deletions)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
Physician must complete test requisition and submit a blood sample (see sample requirements)
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://personalizedmedicine.partners.org/Laboratory-For-Molecular-Medicine/Ordering/Hearing-Loss/Connexin-Test.aspx
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- Droplet Digital PCR
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence Analysis
- Applied Biosystems 3730 capillary sequencing instrument
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Testing strategy
HelpThe lab's suggested sequence of ordering tests based on clinical scenarios. It may include information on: reflex testing including each test component, and scenarios which prompt additional components of testing; whether lab communicates interim results or automatically proceeds to further analyses; and if any components are performed in another laboratory.Given the large contribution of the connexin 26 and connexin 30 genes to genetic causes of hearing loss, the testing of these two genes is often a the first line in a diagnostic work up. Genetic testing for these two genes would be recommended in a child born with hearing loss of any severity. If testing is negative, then additional studies, including more comprehensive genetic testing like the OtoGenome, could be pursued. In addition, this test can be offered to someone whose partner is a known carrier of a pathogenic variant in the connexin 26 gene or the common connexin 30 deletion. In this situation, the test would be able to identify or reduce the risk of carrier status in a hearing individual and determine risk for offspring to have hearing loss due to these genes. 000 Physician must complete test requisition and submit a blood sample (see sample requirements)
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- NICE, 2019Cochlear implants for children and adults with severe to profound deafness (2019 Update)
- ACMG ACT Sheet, 2018Newborn Screening ACT Sheet (Congenital Hearing Loss >30db)
- ACMG ACT Sheet, 2010American College of Medical Genetics ACT SHEET, Congenital Hearing Loss, 2010
- ACMG Algorithm, 2009American College of Medical Genetics Algorithm, Hearing Loss, 2009
- NICE, 2009National Institute for Health and Clinical Excellence, Cochlear implants for children and adults with severe to profound deafness, 2009 [See 2019 Update, TA566]
- ACMG Algorithm, 2009American College of Medical Genetics ACT SHEET, Newborn Screening ACT Sheet Algorithm, Congenital Hearing Loss, 2009
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.